Frontiers in Genetics | New and Recent Articles https://www.frontiersin.org/journals/genetics RSS Feed for Frontiers in Genetics | New and Recent Articles en-us Frontiers Feed Generator,version:1 2026-07-03T03:18:46.741+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1795267 https://www.frontiersin.org/articles/10.3389/fgene.2026.1795267 <![CDATA[Identification of potential biomarkers and therapeutic targets for osteoarthritis associated with arginine and proline metabolism based on transcriptome sequencing and bioinformatics]]> 2026-07-03T00:00:00Z Original Research Xiao-Hua ChenJun LiuLing QiuYang ZhanZhuo-Ming ZhengPeng ChenYou-Xin SuJie-Mei GuoSheng-Jian Weng https://www.frontiersin.org/articles/10.3389/fgene.2026.1850219 https://www.frontiersin.org/articles/10.3389/fgene.2026.1850219 <![CDATA[CNNKSCEC: a deep learning-based framework for chromatin loop prediction with multi-source feature integration]]> 2026-07-03T00:00:00Z Original Research Junfeng WangBingzi ZhengLili WuXiaoyan LiuHaixia ZhaiJunwei Luo https://www.frontiersin.org/articles/10.3389/fgene.2026.1842902 https://www.frontiersin.org/articles/10.3389/fgene.2026.1842902 <![CDATA[Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China]]> 2026-07-02T00:00:00Z Case Report Lina ZhuSiqi HuXinyang JiangRujie GuYongxia WangShufang ZhangFujun PengXiuwei Ma C, in SPG20, leading to a frameshift and the expression of a truncated protein. This variant was absent from multiple population databases of healthy individuals, and both parents were heterozygous carriers without clinical manifestations. Functional studies in cells transfected with SPG20 constructs demonstrated that the variant spartin protein failed to localize to lipid droplets, leading to their accumulation. This functional impairment may contribute to the pathogenesis of Troyer syndrome. Our findings expand the variant spectrum of SPG20 and provide further insight into the genotype–phenotype relationship in Troyer syndrome, highlighting the critical role of spartin in lipid metabolism and neuronal function.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1841116 https://www.frontiersin.org/articles/10.3389/fgene.2026.1841116 <![CDATA[Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report]]> 2026-07-02T00:00:00Z Case Report Ramón Madriz PradoYazmín Guadalupe Ríos SolísDiana Estefanía Guerrero DávilaLucía Molina FernándezOmar Spencer Aguilar ReyesIlse OrdóñezLeticia RamosMarisol González https://www.frontiersin.org/articles/10.3389/fgene.2026.1865257 https://www.frontiersin.org/articles/10.3389/fgene.2026.1865257 <![CDATA[Disease-predominant loci across Alzheimer’s disease, Parkinson’s disease and Lewy body dementia: evidence from the UK Biobank prospective cohort, conditional GWAS and colocalization]]> 2026-07-02T00:00:00Z Original Research Ying ZhangZhishuai ZhangShizheng QiuYang Hu https://www.frontiersin.org/articles/10.3389/fgene.2026.1828693 https://www.frontiersin.org/articles/10.3389/fgene.2026.1828693 <![CDATA[Application of acute myocardial infarction-related key genes in noninvasive diagnosis: a comprehensive analysis based on transcriptome and single-cell transcriptome]]> 2026-07-02T00:00:00Z Original Research Mingbin XieYuanhong WuXinyao JinFengchun JiangQiang Yao https://www.frontiersin.org/articles/10.3389/fgene.2026.1874960 https://www.frontiersin.org/articles/10.3389/fgene.2026.1874960 <![CDATA[S100A9 as a shared biomarker and mediator of metabolic dysfunction in peripheral artery disease and sarcopenia]]> 2026-07-02T00:00:00Z Original Research Yaming GuoWenxin ZhaoHai FengYongjun Li https://www.frontiersin.org/articles/10.3389/fgene.2026.1852317 https://www.frontiersin.org/articles/10.3389/fgene.2026.1852317 <![CDATA[Novel deep intronic variants in NTRK1 underlying congenital insensitivity to pain with anhidrosis]]> 2026-07-02T00:00:00Z Original Research Xin ChenShuang LiZhe LiuJian ChengXiuzhi RenXiuli Zhao T, c.850 + 5G>A), three intron retentions (c.2187 + 389C>T, c.2188–459G>T, c.287 + 4A>C), and one pseudoexon insertion (c.2188–459G>T).ConclusionThis study expands the spectrum of pathogenic variants in NTRK1 and improves the genetic diagnosis of CIPA. The functional characterization of five novel non-canonical splicing variants provides deeper insight into the molecular pathogenesis of this disorder and establishes a foundation for future precision medicine approaches in CIPA.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1827858 https://www.frontiersin.org/articles/10.3389/fgene.2026.1827858 <![CDATA[Integrative serum metabolite prioritization and functional screening identify N-acetyl-L-glutamine as a protective candidate in premature ovarian insufficiency]]> 2026-07-02T00:00:00Z Original Research Xinyue ZhangChen ChenXiaolan Zhu https://www.frontiersin.org/articles/10.3389/fgene.2026.1829878 https://www.frontiersin.org/articles/10.3389/fgene.2026.1829878 <![CDATA[Integrative bioinformatics and in vivo validation suggest a potential role of Cbr4 in alcohol use disorder through modulation of lipid metabolism and treg cell function in the central amygdala]]> 2026-07-01T00:00:00Z Original Research Yao GeYihan YuanMin LiZhenxia HuangChenli ZhangCaiyu YuJinyu XuSiao ZhangHongwei GuoXu ZhangRao FuZhiheng Ren https://www.frontiersin.org/articles/10.3389/fgene.2026.1831886 https://www.frontiersin.org/articles/10.3389/fgene.2026.1831886 <![CDATA[Clinical and neuropsychological profile of Alzheimer’s disease in Tunisia and the impact of APOE gene]]> 2026-07-01T00:00:00Z Original Research Alya GharbiIkram SghaierMohamed El HabibiYoussef AbidaAmira SouissiAmal AtrousMeriem ZantourImen KacemAmina Gargouri BerrechidMouna Ben DjebaraRiadh Gouider https://www.frontiersin.org/articles/10.3389/fgene.2026.1903325 https://www.frontiersin.org/articles/10.3389/fgene.2026.1903325 <![CDATA[Rethinking scale in AI-driven genomic medicine – The role of small biobanks]]> 2026-06-30T00:00:00Z Perspective Laura GrechNikolai Paul Pace https://www.frontiersin.org/articles/10.3389/fgene.2026.1873535 https://www.frontiersin.org/articles/10.3389/fgene.2026.1873535 <![CDATA[Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China]]> 2026-06-30T00:00:00Z Original Research Qin SheHui-Lin OuEr-Fang TangWei HuangWei-He TanMu-Lan ZengXiu-Feng PanChen-Bing Liu A heterozygotes, all had normal hearing at 2.5 years. Among 43 homozygotes, 7 (16.28%) had congenital deafness; the rest remained normal. All 42 mitochondrial mutation carriers remained deafness-free after preventive education. The 23-variant panel detected 24.73% positive cases (225-fold vs. hearing alone). WES resolved 80% of ambiguous cases.ConclusionGJB2 and SLC26A4 are the predominant deafness genes in this region. Combined screening identifies distinct risk groups, heterozygotes for reproductive counselling, mitochondrial carriers for prevention, and homozygotes for early intervention. Long-term follow-up of normal-hearing homozygotes showed low short-term delayed-onset risk.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1860633 https://www.frontiersin.org/articles/10.3389/fgene.2026.1860633 <![CDATA[Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases]]> 2026-06-30T00:00:00Z Case Report Lucía López-LópezBeatriz González GiráldezYolanda BenítezBelén BenavidesCarmen AyusoPablo MínguezFiona Blanco-KellyBerta Almoguera https://www.frontiersin.org/articles/10.3389/fgene.2026.1833404 https://www.frontiersin.org/articles/10.3389/fgene.2026.1833404 <![CDATA[Single-cell transcriptomic insights into the intrinsic cardiac nervous system: diversity, development, and neuro-cardiac interactions]]> 2026-06-30T00:00:00Z Review Jihao ZhengRuotong WuChujiao GuChangsheng ChenLinsheng Shi https://www.frontiersin.org/articles/10.3389/fgene.2026.1877181 https://www.frontiersin.org/articles/10.3389/fgene.2026.1877181 <![CDATA[Identification and validation of bile exosomal microRNA signatures for diagnosing acute rejection in liver transplant recipients]]> 2026-06-29T00:00:00Z Original Research Wenjing WangHui WangWen LiRenchi FuBo WangBo Guo https://www.frontiersin.org/articles/10.3389/fgene.2026.1898696 https://www.frontiersin.org/articles/10.3389/fgene.2026.1898696 <![CDATA[Correction: The impact of X chromosome inactivation on human health]]> 2026-06-29T00:00:00Z Correction Junyi GuQian Chen https://www.frontiersin.org/articles/10.3389/fgene.2026.1701742 https://www.frontiersin.org/articles/10.3389/fgene.2026.1701742 <![CDATA[L-tetrahydropalmatine attenuates ketamine reward effect via modulating the miR-27a-3p/MAP2K4 axis]]> 2026-06-29T00:00:00Z Original Research Yan DuXing-Cui GaoQing MaBei LiYanting ChenHong-Liang SuLi DuTai-Gang Liang https://www.frontiersin.org/articles/10.3389/fgene.2026.1830873 https://www.frontiersin.org/articles/10.3389/fgene.2026.1830873 <![CDATA[Distribution of CYP2C19 genetic polymorphisms and pharmacogenomic implications in 11,710 patients with cardiovascular and cerebrovascular conditions: a large population-based study in eastern China]]> 2026-06-29T00:00:00Z Original Research Minfei PengMinmin HeYing ChenXiaoli ZhuJun Li 0.05). No significant differences were observed in genotype or phenotype distributions across gender or age groups (P > 0.05). Regional comparisons showed that the distribution pattern in Taizhou was consistent with that reported in other regions of eastern China but differed from southern and western populations (P < 0.05). The proportion of individuals carrying at least one loss-of-function allele (IMs + PMs) reached 62.85%, indicating a high prevalence of genotypes associated with reduced clopidogrel responsiveness.ConclusionThis large population-based pharmacogenomic study demonstrates a high prevalence of CYP2C19 loss-of-function alleles in patients with cardiovascular and cerebrovascular conditions from Taizhou. These findings support the clinical value of CYP2C19 genotyping for individualized antiplatelet therapy and provide important genetic epidemiology data for precision medicine in this population.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1837827 https://www.frontiersin.org/articles/10.3389/fgene.2026.1837827 <![CDATA[The miR-16-1-3p passenger strand exhibits functional activity and suppresses malignant phenotypes in osteosarcoma]]> 2026-06-26T00:00:00Z Original Research Wenyu XueYuzhe WangPolina PugachevaAnna V. SmirnovaRoman Chuprov-NetochinMargarita PustovalovaDenis V. KuzminSergey Leonov